Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

O-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription. In humans, single genes encode enzymes for its attachment (O-GlcNAc transferase (OGT)) and removal (O-GlcNAcase (OGA)). An X-chro...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Vaidyanathan, Krithika, Niranjan, Tejasvi, Selvan, Nithya, Teo, Chin Fen, May, Melanie, Patel, Sneha, Weatherly, Brent, Skinner, Cindy, Opitz, John, Carey, John, Viskochil, David, Gecz, Jozef, Shaw, Marie, Peng, Yunhui, Alexov, Emil, Wang, Tao, Schwartz, Charles, Wells, Lance
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2017
Soggetti:
Glycobiology and Extracellular Matrices
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5448127/
https://ncbi.nlm.nih.gov/pubmed/28302723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.771030
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